Canonical Allele Identifier: CA636177217

Gene: CD40

Linked Data

• dbSNP Id: rs1183644468
• gnomAD v2: 20-44757706-A-C
• gnomAD v3: 20-46129067-A-C
• gnomAD v4: 20-46129067-A-C
• MyVariant Identifiers: chr20:g.44757706A>C (hg19) ; chr20:g.46129067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129067A>C , CM000682.2:g.46129067A>C	GRCh38
NC_000020.10:g.44757706A>C , CM000682.1:g.44757706A>C	GRCh37
NC_000020.9:g.44191113A>C	NCBI36
NG_007279.1:g.15801A>C , LRG_40:g.15801A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.944A>C	ENSP00000512096.1:n.944A>C
ENST00000695675.1:n.2737A>C
ENST00000372285.8:c.*27A>C MANE Select	ENSP00000361359.3:n.*27A>C
ENST00000372276.7:c.*187A>C	ENSP00000361350.3:n.*187A>C
ENST00000372285.7:c.*27A>C	ENSP00000361359.3:n.*27A>C
ENST00000466205.5:c.763A>C
ENST00000489304.5:n.937A>C
ENST00000620709.4:c.*408A>C	ENSP00000484074.1:n.*408A>C
NM_001250.5:c.*27A>C	NP_001241.1:n.*27A>C
NM_001302753.1:c.*187A>C	NP_001289682.1:n.*187A>C
NM_152854.3:c.*187A>C	NP_690593.1:n.*187A>C
NR_126502.1:n.954A>C
XM_005260617.2:c.*27A>C	XP_005260674.1:n.*27A>C
XM_005260619.2:c.*27A>C	XP_005260676.1:n.*27A>C
NM_001322421.1:c.*27A>C	NP_001309350.1:n.*27A>C
NM_001322422.1:c.*27A>C	NP_001309351.1:n.*27A>C
NM_001362758.1:c.*187A>C	NP_001349687.1:n.*187A>C
NR_136327.1:n.857A>C
XM_005260619.3:c.*27A>C	XP_005260676.1:n.*27A>C
XM_017028135.1:c.896A>C	XP_016883624.1:p.His299Pro
XM_017028136.1:c.794A>C	XP_016883625.1:p.His265Pro
NM_001250.6:c.*27A>C MANE Select	NP_001241.1:n.*27A>C
NM_001302753.2:c.*187A>C	NP_001289682.1:n.*187A>C
NM_001322421.2:c.*27A>C	NP_001309350.1:n.*27A>C
NM_001322422.2:c.*27A>C	NP_001309351.1:n.*27A>C
NM_001362758.2:c.*187A>C	NP_001349687.1:n.*187A>C
NM_152854.4:c.*187A>C	NP_690593.1:n.*187A>C
NR_126502.2:n.894A>C
NR_136327.2:n.797A>C